Results 1 to 10 of about 1,020 (131)

Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant [PDF]

Animal Models and Experimental Medicine
Background Constitutional mismatch repair deficiency (CMMRD) is a rare disorder resulting from biallelic germline pathogenic variants in mismatch repair genes.
Daniel Antunes Moreno, Bruna Minniti Mançano, Mirella Baroni, Eric Allison Philot, Felipe Antonio deOliveira Garcia, Murilo Bonatelli, Flávia Escremim dePaula, Iara Viana Vidigal Santana, Gustavo Ramos Teixeira, Mauricio Yamanari, Luciane Sussuchi daSilva, André Escremim dePaula, Augusto Perazzolo Antoniazzi, Adrian Willig, Xiaobin Xing, Zhenyu Xu, Lucas Lourenço, Carlos Almeida Junior, Silvia Aparecida Teixeira, Rui Manuel Reis   +19 more
doaj   +3 more sources

Immune Checkpoint Inhibition as Primary Adjuvant Therapy for an IDH1-Mutant Anaplastic Astrocytoma in a Patient with CMMRD: A Case Report—Usage of Immune Checkpoint Inhibition in CMMRD [PDF]

Current Oncology, 2021
Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive hereditary cancer syndrome due to biallelic germline mutation involving one of the four DNA mismatch repair genes.
Rebekah Rittberg, Craig Harlos, Heidi Rothenmund, Anirban Das, Uri Tabori, Namita Sinha, Harminder Singh, Bernie Chodirker, Christina A. Kim   +8 more
doaj   +2 more sources

Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review

BMC Medical Genomics, 2023
Background Constitutional mismatch repair deficiency (CMMRD) results from a biallelic germline pathogenic variant in a mismatch repair (MMR) gene. The most common CMMRD-associated malignancies are brain tumors; an accurate diagnosis is challenging when a
Shumpei Onishi, Fumiyuki Yamasaki, Kazuya Kuraoka, Akira Taguchi, Takeshi Takayasu, Kiwamu Akagi, Takao Hinoi   +6 more
doaj   +2 more sources

Cerebral developmental venous anomalies in children with mismatch repair deficiency [PDF]

The Turkish Journal of Pediatrics, 2022
Background. Constitutional mismatch repair deficiency (CMMRD) is one of the rare cancer predisposition syndromes. The aim of this study was to evaluate the cerebral developmental venous anomalies in children with central nervous system tumors ...
Buket Kara, Yahya Paksoy, Ahmet Okay Çağlayan, Nusret Seher, Hilal Akbaş, Yavuz Köksal   +5 more
doaj   +2 more sources

Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature [PDF]

The Turkish Journal of Pediatrics, 2021
Background. Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations of mismatch repair (MMR) genes.
Derya Özyörük, Emel Ünal Cabı, Nurdan Taçyıldız, Ferda Pınarlı, Ayşe Oğuz Erdoğan, Şahin Hanalioğlu, Arzu Yazal Erdem, Arzu Meltem Demir   +7 more
doaj   +2 more sources

CMMRD caused by PMS1 mutation in a sudanese consanguineous family

Hereditary Cancer in Clinical Practice, 2022
A consanguineous family of three siblings presented with different early onset pediatric cancers. Whole-exome sequencing of parents DNA revealed a deleterious frameshift mutation in hPMS1 the first to be reported in association to a CMMRD phenotype.
Muntaser Ibrahim
exaly   +2 more sources

Role of video capsule endoscopy in patients with constitutional mismatch repair deficiency (CMMRD) syndrome: report from the International CMMRD Consortium

Endoscopy International Open, 2018
Background and study aims Constitutional mismatch repair deficiency (CMMRD) syndrome, also known as biallelic mismatch repair deficiency (BMMRD) syndrome is a rare autosomal-recessive genetic disorder that has a high mortality due to malignancy in ...
Catharine M Walsh, Yuto Shimamura, M Aronson   +2 more
exaly   +3 more sources

CONSTITUTIONAL MISSMATCH DEFECT REPAIR DISORDER (CMMRD) IN PEDIATRIC HIGH GRADE GLIOMA

Hematology, Transfusion and Cell Therapy, 2021
Objective: Pediatric high grade gliomas(HGG) have dismal prognosis with median survival of 9-15 months after standard radio-chemptherapy. Recent molecular investigations revealed a missmatch repair defect called Constitutional Mismatch Repair Deficiency (
Bahattin Tanrıkulu, Ayça Erşen Danyeli, Cengiz Canpolat, M. Memet Özek   +3 more
doaj   +1 more source

Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report

Frontiers in Oncology, 2023
Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder caused by biallelic germline mutations in one of the mismatch repair genes.
Firas Akrout, Firas Akrout, Ahlem Achour, Ahlem Achour, Ahlem Achour, Carli M. J. Tops, Richard Gallon, Rym Meddeb, Rym Meddeb, Sameh Achoura, Sameh Achoura, Mariem Ben Rekaya, Mariem Ben Rekaya, Emna Hamdeni, Soumaya Rammeh, Soumaya Rammeh, Ridha Chkili, Ridha Chkili, Nada Mansouri, Nada Mansouri, Neila Belguith, Neila Belguith, Ridha Mrad, Ridha Mrad   +23 more
doaj   +1 more source

Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report

BMC Gastroenterology, 2021
Background Constitutional mismatch repair deficiency (CMMRD) is caused by biallelic pathogenic variants in one of the mismatch repair genes, and results in early onset colorectal cancer, leukemia, brain tumors and other childhood malignancies.
Keinosuke Hizuka, Shin-ichiro Hagiwara, Takatoshi Maeyama, Hitoshi Honma, Masanobu Kawai, Kiwamu Akagi, Michiko Yasuhara, Naohiro Tomita, Yuri Etani   +8 more
doaj   +1 more source